Robert B. Hufnagel

Pathogenic MYRF ICA Domain Variant is Aberrantly Trafficked in the RPE and Results in Isolated Nanophthalmos

This study identifies a pathogenic MYRF variant causing isolated nanophthalmos by showing it is cleavage deficient, mislocalized, and reduces transcriptional activity with SOX10.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

A Comparative Survey of Functional Evidence Use in Hearing and Vision Loss Genetics

The paper surveys genetics professionals on their use of functional evidence in variant classification for hearing and vision loss, highlighting challenges in data quality, accessibility, and integration into clinical practice.

Peroxisome dysfunction alters metabolism of photoreceptor outer segments in human retinal pigment epithelium

This study investigates how peroxisome dysfunction in human retinal pigment epithelium (RPE) affects photoreceptor outer segment metabolism, revealing disrupted fatty acid retroconversion and lipid droplet accumulation.

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium

The paper identifies a hypomorphic MYRF variant causing partial loss of function in the RPE, with two novel splicing variants linked to isolated nanophthalmos.

The qMini assay identifies an overlooked class of splice variants

The qMini assay identifies a new class of splice variants that reduce mature mRNA levels without altering sequence, suggesting a novel pathogenic mechanism.

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.

Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease

The paper classifies 2,247 ABCA4 variants using updated ACMG/AMP guidelines to improve genetic diagnosis and counseling for Stargardt Disease.

Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

The paper maps transcriptional profiles in macaque retina and RPE-choroid tissues, identifying conserved gene expression patterns and signaling pathways relevant to high-acuity vision and disease.

Zfp503/Nlz2 is Required for RPE Differentiation and Optic Fissure Closure

The paper shows that Zfp503 is essential for RPE differentiation and optic fissure closure, with loss of function leading to uveal coloboma and altered gene expression in developing mouse eyes.

Building the Mega Single Cell Transcriptome Ocular Meta-Atlas

The paper develops a method to integrate single cell transcriptome data from multiple retinal datasets across species to create a comprehensive ocular meta-atlas.

Potential therapy for progressive vision loss due to PCDH15-associated Usher syndrome developed in an orthologous Usher mouse

The paper describes a potential therapy for PCDH15-associated Usher syndrome using exogenous retinoids in a mouse model, showing improved ERG amplitudes.

A short read de novo transcriptome construction pipeline optimized by long reads reveals novel developmentally regulated gene isoforms and disease targets in hundreds of eye samples

The paper optimizes a short-read de novo transcriptome pipeline using long-read data to identify novel gene isoforms in eye samples and their relevance to development and disease.

Using human sequencing to guide craniofacial research.

The paper discusses using human sequencing and CRISPR-Cas9 to study a novel craniofacial syndrome, finding that a variant in AMOTL1 causes lethality in mice but its pathogenicity in humans remains unclear.

Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks

The paper integrates RNA-seq data from human eye tissues and other body tissues to identify biological processes and gene correlations, building gene networks and providing an interactive web tool.